Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3168-71. doi: 10.1073/pnas.94.7.3168.

Abstract

Profound cellular immunodeficiency occurs as the result of mutations in proteins involved in both the differentiation and function of mature lymphoid cells. We describe here a novel human immune aberration arising from a truncation mutation of the interleukin-2 receptor alpha chain (CD25), a subunit of the tripartite high-affinity receptor for interleukin 2. This immunodeficiency is characterized by decreased numbers of peripheral T cells displaying abnormal proliferation but normal B cell development. Extensive lymphocytic infiltration of tissues, including lung, liver, gut, and bone, is observed, accompanied by tissue atrophy and inflammation. Although mature T cells are present, the absence of CD25 does affect the differentiation of thymocytes. While displaying normal development of CD2, CD3, CD4, and CD8 expression, CD25-deficient cortical thymocytes do not express CD1, and furthermore they fail to normally down-regulate levels of the anti-apoptotic protein bcl-2.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Apoptosis
  • Humans
  • Immune System Diseases / genetics*
  • Immune System Diseases / immunology
  • Immune System Diseases / pathology
  • Immunophenotyping
  • Infant
  • Male
  • Molecular Sequence Data
  • Proto-Oncogene Proteins c-bcl-2 / metabolism
  • Receptors, Interleukin-2 / genetics*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Thymus Gland / immunology
  • Thymus Gland / metabolism
  • Thymus Gland / pathology

Substances

  • Proto-Oncogene Proteins c-bcl-2
  • Receptors, Interleukin-2